HGVS | Genome Assembly |
---|---|
NC_000006.12:g.123503785T>C , CM000668.2:g.123503785T>C | GRCh38 |
NC_000006.11:g.123824930T>C , CM000668.1:g.123824930T>C | GRCh37 |
NC_000006.10:g.123866629T>C | NCBI36 |
NG_030438.1:g.138309A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361029.9:c.529A>G | ENSP00000354307.5:p.Thr177Ala | |
ENST00000546248.6:c.727A>G | ENSP00000439281.2:p.Thr243Ala | |
ENST00000334268.9:c.727A>G MANE Select | ENSP00000333984.5:p.Thr243Ala | |
ENST00000662930.1:c.727A>G | ENSP00000499585.1:p.Thr243Ala | |
ENST00000334268.8:c.727A>G | ENSP00000333984.5:p.Thr243Ala | |
ENST00000361029.8:c.243A>G | ||
ENST00000546248.5:c.727A>G | ENSP00000439281.2:p.Thr243Ala | |
ENST00000628709.2:c.727A>G | ENSP00000486095.1:p.Thr243Ala | |
NM_001251987.1:c.727A>G | NP_001238916.1:p.Thr243Ala | |
NM_001256020.1:c.727A>G | NP_001242949.1:p.Thr243Ala | |
NM_001256021.1:c.727A>G | NP_001242950.1:p.Thr243Ala | |
NM_006073.3:c.727A>G | NP_006064.2:p.Thr243Ala | |
XM_011535382.1:c.727A>G | XP_011533684.1:p.Thr243Ala | |
NM_006073.4:c.727A>G MANE Select | NP_006064.2:p.Thr243Ala | |
NM_001251987.2:c.727A>G | NP_001238916.1:p.Thr243Ala | |
NM_001256020.2:c.727A>G | NP_001242949.1:p.Thr243Ala | |
NM_001256021.2:c.727A>G | NP_001242950.1:p.Thr243Ala |